KEGG   DISEASE: Peters anomalyHelp
Entry
H01075                      Disease                                

Name
Peters anomaly
Description
Peters anomaly is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemets membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Specific chromosomal abnormalities have also been found to be responsible for Peters anomaly.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H01075  Peters anomaly
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q10-Q18  Congenital malformations of eye, ear, face and neck
   Q13  Congenital malformations of anterior segment of eye
    H01075  Peters anomaly
BRITE hierarchy
Pathway
hsa04350  TGF-beta signaling pathway
hsa00140  Steroid hormone biosynthesis
hsa00380  Tryptophan metabolism
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00514  Other types of O-glycan biosynthesis
Gene
PAX6 [HSA:5080] [KO:K08031]
PITX2 [HSA:5308] [KO:K04686]
CYP1B1 [HSA:1545] [KO:K07410]
FOXC1 [HSA:2296] [KO:K09396]
B3GALTL [HSA:145173] [KO:K13675]
Comment
Anterior segment dysgenesis (ASD) have been classified into different subtypes, including aniridia, Axenfeld's anomaly, Rieger's anomaly, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.
Other DBs
ICD-10: Q13.4
MeSH: C537884
OMIM: 604229 261540
Reference
PMID:21633242 (description, gene)
  Authors
Girgis N, Chen TC
  Title
Genetics of the pediatric glaucomas.
  Journal
Int Ophthalmol Clin 51:107-17 (2011)
DOI:10.1097/IIO.0b013e31821e538b
Reference
PMID:21738392 (description)
  Authors
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
  Title
Chromosome abnormalities and the genetics of congenital corneal opacification.
  Journal
Mol Vis 17:1624-40 (2011)
Reference
PMID:21448066 (description, gene)
  Authors
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR
  Title
Peters anomaly: review of the literature.
  Journal
Cornea 30:939-44 (2011)
DOI:10.1097/ICO.0b013e31820156a9
Reference
PMID:12015278 (comment)
  Authors
Gould DB, John SW
  Title
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
  Journal
Hum Mol Genet 11:1185-93 (2002)
DOI:10.1093/hmg/11.10.1185

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